Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.
Indian Pediatr
; 57(2): 180-181, 2020 02 15.
Article
en En
| MEDLINE
| ID: mdl-32060250
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK. We report two siblings with MKD, presenting with recurrent febrile illnesses, detected to have compound heterozygous variants in MVK. MKD mimics common pediatric conditions and should be considered as a differential diagnosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Deficiencia de Mevalonato Quinasa
/
Fiebre de Origen Desconocido
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
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Humans
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Infant
/
Male
Idioma:
En
Revista:
Indian Pediatr
Año:
2020
Tipo del documento:
Article
País de afiliación:
India
Pais de publicación:
India